Human Gene PELP1 (ENST00000572293.7_11) from GENCODE V47lift37
  Description: proline, glutamate and leucine rich protein 1, transcript variant 1 (from RefSeq NM_014389.3)
Gencode Transcript: ENST00000572293.7_11
Gencode Gene: ENSG00000141456.16_18
Transcript (Including UTRs)
   Position: hg19 chr17:4,573,069-4,607,432 Size: 34,364 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr17:4,574,734-4,607,406 Size: 32,673 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:4,573,069-4,607,432)mRNA (may differ from genome)Protein (1130 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PELP1_HUMAN
DESCRIPTION: RecName: Full=Proline-, glutamic acid- and leucine-rich protein 1; AltName: Full=Modulator of non-genomic activity of estrogen receptor; AltName: Full=Transcription factor HMX3;
FUNCTION: Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence- specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its interaction with SRC and PI3K.
SUBUNIT: Interacts with HRS, RXRA, SUMO2, HDAC2, RB1 and STAT3. Interacts with PI3K, SRC and EGFR in cytoplasm. Interacts with ESR1 and ESR2 and this interaction is enhanced by 17-beta- estradiol. Interacts with CREBBP, EP300, AR and NR3C1 in a ligand- dependent manner. Forms two complexes in the presence of 17-beta- estradiol; one with SRC and ESR1 and another with LCK and ESR1. Interacts with histone H1 and H3 with a greater affinity for H1. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.
INTERACTION: P19838:NFKB1; NbExp=2; IntAct=EBI-716449, EBI-300010;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Also found associated with the plasma membrane. Mainly in cytoplasm in a subset of breast tumors. Localization is widely deregulated in endometrial cancers with predominantly cytoplasm localization in high-grade endometrial tumors.
TISSUE SPECIFICITY: Isoform 2 is expressed in breast cancer cell lines. Isoform 1 is widely expressed.
DOMAIN: The Glu-rich region mediates histones interaction.
DOMAIN: The Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are required for the association with nuclear receptor ESR1.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SEQUENCE CAUTION: Sequence=AAC17708.2; Type=Frameshift; Positions=656, 672;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PELP1
Diseases sorted by gene-association score: breast cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.71 RPKM in Testis
Total median expression: 807.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.8026-0.223 Picture PostScript Text
3' UTR -500.601665-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012980 - Uncharacterised_NUC202

Pfam Domains:
PF08166 - NUC202 domain
PF08167 - rRNA processing/ribosome biogenesis

SCOP Domains:
48371 - ARM repeat
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8IZL8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006364 rRNA processing
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0071391 cellular response to estrogen stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0035327 transcriptionally active chromatin
GO:0071339 MLL1 complex


-  Descriptions from all associated GenBank mRNAs
  LF209166 - JP 2014500723-A/16669: Polycomb-Associated Non-Coding RNAs.
BC010457 - Homo sapiens proline, glutamate and leucine rich protein 1, mRNA (cDNA clone IMAGE:4156419), partial cds.
AK226056 - Homo sapiens mRNA for proline-, glutamic acid-, leucine-rich protein 1 variant, clone: fk12906.
AK291163 - Homo sapiens cDNA FLJ75008 complete cds, highly similar to Homo sapiens proline-, glutamic acid-, leucine-rich protein 1 (PELP1), mRNA.
AK299084 - Homo sapiens cDNA FLJ56414 complete cds, highly similar to Homo sapiens proline-, glutamic acid-, leucine-rich protein 1 (PELP1), mRNA.
BC039131 - Homo sapiens proline, glutamic acid and leucine rich protein 1, mRNA (cDNA clone IMAGE:4158475), with apparent retained intron.
U88154 - Homo sapiens proline and glutamic acid rich nuclear protein isoform mRNA, partial cds.
BC069058 - Homo sapiens proline, glutamate and leucine rich protein 1, mRNA (cDNA clone MGC:70420 IMAGE:6068755), complete cds.
U88153 - Homo sapiens PELP1 mRNA, complete cds.
LF213770 - JP 2014500723-A/21273: Polycomb-Associated Non-Coding RNAs.
AK293838 - Homo sapiens cDNA FLJ51806 complete cds, highly similar to Homo sapiens proline-, glutamic acid-, leucine-rich protein 1 (PELP1), mRNA.
AY882602 - Homo sapiens transcription factor HMX3 mRNA, complete cds.
AF547989 - Homo sapiens MNAR (MNAR) mRNA, complete cds.
AB384790 - Synthetic construct DNA, clone: pF1KB3332, Homo sapiens PELP1 gene for proline, glutamic acid and leucine rich protein 1, complete cds, without stop codon, in Flexi system.
MA444743 - JP 2018138019-A/16669: Polycomb-Associated Non-Coding RNAs.
MA449347 - JP 2018138019-A/21273: Polycomb-Associated Non-Coding RNAs.
JD567060 - Sequence 548084 from Patent EP1572962.
JD567061 - Sequence 548085 from Patent EP1572962.
LF326514 - JP 2014500723-A/134017: Polycomb-Associated Non-Coding RNAs.
BC002875 - Homo sapiens proline, glutamate and leucine rich protein 1, mRNA (cDNA clone IMAGE:3940843), partial cds.
LF326515 - JP 2014500723-A/134018: Polycomb-Associated Non-Coding RNAs.
LF326516 - JP 2014500723-A/134019: Polycomb-Associated Non-Coding RNAs.
LF326517 - JP 2014500723-A/134020: Polycomb-Associated Non-Coding RNAs.
LF326518 - JP 2014500723-A/134021: Polycomb-Associated Non-Coding RNAs.
LF326519 - JP 2014500723-A/134022: Polycomb-Associated Non-Coding RNAs.
LF326522 - JP 2014500723-A/134025: Polycomb-Associated Non-Coding RNAs.
LF326523 - JP 2014500723-A/134026: Polycomb-Associated Non-Coding RNAs.
LF326524 - JP 2014500723-A/134027: Polycomb-Associated Non-Coding RNAs.
LF326526 - JP 2014500723-A/134029: Polycomb-Associated Non-Coding RNAs.
MA562091 - JP 2018138019-A/134017: Polycomb-Associated Non-Coding RNAs.
MA562092 - JP 2018138019-A/134018: Polycomb-Associated Non-Coding RNAs.
MA562093 - JP 2018138019-A/134019: Polycomb-Associated Non-Coding RNAs.
MA562094 - JP 2018138019-A/134020: Polycomb-Associated Non-Coding RNAs.
MA562095 - JP 2018138019-A/134021: Polycomb-Associated Non-Coding RNAs.
MA562096 - JP 2018138019-A/134022: Polycomb-Associated Non-Coding RNAs.
MA562099 - JP 2018138019-A/134025: Polycomb-Associated Non-Coding RNAs.
MA562100 - JP 2018138019-A/134026: Polycomb-Associated Non-Coding RNAs.
MA562101 - JP 2018138019-A/134027: Polycomb-Associated Non-Coding RNAs.
MA562103 - JP 2018138019-A/134029: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor
h_pelp1Pathway - Pelp1 Modulation of Estrogen Receptor Activity

Reactome (by CSHL, EBI, and GO)

Protein Q8IZL8 (Reactome details) participates in the following event(s):

R-HSA-8856930 EPAS1 (HIF2A) and activated NR3C1 (GCR) bind PTK6 gene
R-HSA-8849473 PTK6 Expression
R-HSA-8848021 Signaling by PTK6
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-162582 Signal Transduction
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000572293.1, ENST00000572293.2, ENST00000572293.3, ENST00000572293.4, ENST00000572293.5, ENST00000572293.6, HMX3, MNAR, NM_014389, O15450, PELP1_HUMAN, Q5EGN3, Q6NTE6, Q8IZL8, Q96FT1, Q9BU60, uc326bsq.1, uc326bsq.2
UCSC ID: ENST00000572293.7_11
RefSeq Accession: NM_014389.3
Protein: Q8IZL8 (aka PELP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.